{"Name":"Distal myopathy, Tateyama type","DiseaseID__c":"GARD:0017900","id":17900,"encodedName":"distal-myopathy-tateyama-type","IsDeleted":false,"Disease_Name_Full__c":"Distal myopathy, Tateyama type","Xref_IDs__c":"711265009; C3280443; DOID:0111191; MEDGEN:482073; MONDO:0013686; OMIM:614321; ORPHA:488650","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013686","Disease_Description__c":"Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.","GARD_Name__c":"Distal myopathy, Tateyama type","GARD_Synonym__c":"cav3-related distal myopathy; caveolin 3 related distal myopathy; mpdt","Curated_Disease_Description_Source__c":"MONDO:0013686","Curated_Disease_Description__c":"CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet. People with CAV3-related distal myopathy experience wasting (atrophy) and weakness of the small muscles in the hands and feet that generally become noticeable in adulthood. A bump or other sudden impact on the muscles, especially those in the forearms, may cause them to exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful. Overgrowth (hypertrophy) of the calf muscles can also occur in CAV3-related distal myopathy. The muscles closer to the center of the body (proximal muscles) such as the thighs and upper arms are normal in this condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:488650","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013686","ORPHANET_ID__c":"ORPHA:488650","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía distal tipo tateyama","Spanish_Description_Source__c":"ORPHA:488650","Spanish_Description__c":"La miopatía distal tipo Tateyama, es un trastorno de miopatía distal lentamente progresivo, genético y poco frecuente, caracterizado por atrofia y debilidad muscular limitada a los músculos pequeños de las manos y los pies (en particular, atrofia muscular tenar e hipotenar), aumento de la creatinquinasa sérica y marcada disminución de la expresión de caveolina-3 en biopsias musculares. Algunos afectados también pueden presentar hipertrofia de la pantorrilla, pies cavos y signos de hiperexcitabilidad muscular.","Spanish_Disease_Name__c":"miopatía distal tipo tateyama","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet. People with CAV3-related distal myopathy experience wasting (atrophy) and weakness of the small muscles in the hands and feet that generally become noticeable in adulthood. A bump or other sudden impact on the muscles, especially those in the forearms, may cause them to exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful. Overgrowth (hypertrophy) of the calf muscles can also occur in CAV3-related distal myopathy. The muscles closer to the center of the body (proximal muscles) such as the thighs and upper arms are normal in this condition.","Curated_Disease_Description_Source__c":"MONDO:0013686","GARD_Synonym__c":"cav3-related distal myopathy; caveolin 3 related distal myopathy; mpdt","Name":"Distal myopathy, Tateyama type","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Muscular Dystrophy","Tag_Category__c":"Account;Disease Category","category_description":"Muscular dystrophy refers to a group of inherited disorders that cause muscles to gradually weaken and break down.","curated_tag_name":"Muscular dystrophy"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:488650"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3280443","Source__c":"C3280443","Xref__c":"C3280443"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=482073","Source__c":"C3280443","Xref__c":"MEDGEN:482073"},{"URL__c":"https://www.omim.org/entry/614321","Source__c":"C3280443; MONDO:0013686; ORPHA:488650","Xref__c":"OMIM:614321"},{"URL__c":"https://www.orpha.net/en/disease/detail/488650","Source__c":"C3280443; MONDO:0013686; ORPHA:488650","Xref__c":"ORPHA:488650"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=711265009","Source__c":"C3280443; MONDO:0013686","Xref__c":"711265009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111191","Source__c":"MONDO:0013686","Xref__c":"DOID:0111191"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013686","Source__c":"GARD:0017900","Xref__c":"MONDO:0013686"},{"URL__c":"https://medlineplus.gov/genetics/condition/cav3-related-distal-myopathy","Source__c":"GARD:0017900","Xref__c":"https://medlineplus.gov/genetics/condition/cav3-related-distal-myopathy"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CAV3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cav3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:488650","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003707","HPO_Synonym__c":"Pseudohypertrophy of the calves","HPO_Name__c":"Calf muscle pseudohypertrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488650","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002312","HPO_Synonym__c":"Clumsiness","HPO_Name__c":"Clumsiness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488650","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008954","HPO_Name__c":"Intrinsic hand muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488650","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009005","HPO_Name__c":"Weakness of the intrinsic hand muscles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488650","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the muscuklature of the calf.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008962","HPO_Synonym__c":"Hypoplastic calf muscles; Underdeveloped calf muscles","HPO_Name__c":"Calf muscle hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488650","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in sensation in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002936","HPO_Synonym__c":"Decreased distal sensation; Decreased sensation in extremities; Distal sensation loss; Distal sensory impairment in lower limbs; Distal sensory impairment of the lower extremities; Distal sensory loss; Distal sensory loss, upper and lower limbs; Loss of distal sensation","HPO_Name__c":"Distal sensory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488650","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001761","HPO_Synonym__c":"Cavus foot; High-arched foot","HPO_Name__c":"Pes cavus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488650","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Decreased strength of the neck musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000467","HPO_Synonym__c":"Floppy neck; Neck muscle weakness","HPO_Name__c":"Neck muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488650","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal circulating creatine kinase concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040081","HPO_Synonym__c":"Abnormal circulating CK concentration; Abnormal circulating CPK concentration; Abnormal circulation phospho-CK concentration; Abnormal levels of creatine kinase in blood","HPO_Name__c":"Abnormal circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:488650","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003557","HPO_Synonym__c":"Increased fiber size variation; Increased variability in muscle fiber size; Increased variation in fiber size; Increased variation in muscle fiber size; Variation in muscle fiber size","HPO_Name__c":"Increased variability in muscle fiber diameter","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488650","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030089","HPO_Name__c":"Abnormal muscle fiber protein expression","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488650","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased concentration of cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003124","HPO_Synonym__c":"Elevated serum cholesterol; Elevated total cholesterol; Increased total cholesterol","HPO_Name__c":"Hypercholesterolemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:488650","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003760","HPO_Name__c":"Percussion-induced rapid rolling muscle contractions","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488650","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488650","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003458","HPO_Synonym__c":"EMG: myopathic changes; EMG: myopathy; Myopathic electromyogram","HPO_Name__c":"EMG: myopathic abnormalities","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:488650","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001962","HPO_Synonym__c":"Heart palpitations; Missed heart beat; Palpitations; Skipped heart beat","HPO_Name__c":"Palpitations","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488650","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Progressively reduced strength of the distal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009063","HPO_Synonym__c":"Muscle weakness, distal, progressive; Muscle weakness, progressive, distal","HPO_Name__c":"Progressive distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488650","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Absence of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001284","HPO_Synonym__c":"Absent deep tendon reflexes; Absent tendon reflexes; Deep tendon reflexes absent; Loss of deep tendon reflexes; Lost deep tendon reflexes","HPO_Name__c":"Areflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Muscular Dystrophy"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"],"Account":["Muscular Dystrophy"]},"synonyms":["cav3-related distal myopathy"," caveolin 3 related distal myopathy"," mpdt"]}